Members
| Agnès Linglart Lead | CHU Paris-Sud – Hôpital de Bicêtre, Paris, France |
| Diana Alexandra Ertl Co-lead | CHU Paris-Sud – Hôpital de Bicêtre, Paris, France Medical University of Vienna, Vienna, Austria |
| Carola Zillikens | Erasmus Medical Center Rotterdam, The Netherlands |
| Maria Luisa Brandi | Fondazione FIRMO Onlus, Fondazione Italiana per la Ricerca sulle Malattie dell’Osso Donatello Bone Clinic, Casa di Cura Villa Donatello, Sesto Fiorentino, Italy |
| Adalbert Raimann | Medical University of Vienna, Vienna, Austria |
| Oliver Gardner | XLH Alliance |
| Martha Kirchhoff | Phosphatdiabetes e.V. |
| Tenna Toft | XLH Alliance |
| Gabriel Mindler | Orthopedic Hospital Speising and Vienna Bone and Growth Center, Vienna, Austria |
| Karine Briot | Cochin Hospital, Paris, France |
| Marine de Tienda | CHU Necker Enfants Malades |
| Peter Kamenicky | Bicêtre Paris-Sud Hospital, Paris, France |
| Ola Nilsson | Karolinska Institute, Stockholm, Sweden |
Objectives
The main aim of this study group was to implement in EuRR-Bone and EuRR-Bone a specific module that will help to better define the different forms of rare hypophosphataemia. The documented data will help medical community to accelerate the diagnostic process and to improve the multidisciplinary management of the patients.
Activities
We created a study group composed by experts in the field of rare calcium and phosphate disorders as well as by representatives of patient organizations. The multidisciplinary character of our group allowed us to discuss the various comorbidities and the burdens of patients from different angles and helped us conceive a complex disease-specific module for EuRR-Bone and EuRRECa.
This module is intended for both clinicians and patients. Its scope is to gather information on diagnostic and therapeutic process, as well as patient reported outcomes (PROs). These data will help in the future to better understand the variability of the phenotype and to ensure a more specific, individualized therapy. This module is available in the Core Registry platform for health care professionals caring for patients with rare hypophosphataemia.
We invite all centers reporting to EuRR-Bone to have a glimpse of our module and to help us reach our aim of improving patient’s management by sharing their data.
In the future, our study group plans to launch international and multidisciplinary cooperations for research projects based on the collected data. We are looking forward to meet new partners and to expand our study group in the months and years to come.
EuRRECa 